daughtersrus
DIS Veteran
- Joined
- Feb 26, 2002
- Messages
- 6,658
Before the planes crashed in NY, the Pentagon and PA, the world as my family knew it was in turmoil. We had received notice that a diagnosis had been finally confirmed for our youngest DD (we had gotten a bill from the lab in the mail so we knew that the tests were completed).We had started the search 6 1/2 years earlier and she had seen more specialist and had more tests than I can even remember. The problem that we were having was that NO ONE would tell us the name of the disease. We called the lab in PA that did the test and they wouldn't give results over the phone. We called the geneticist and he was out of town for a convention. We called the lab at the hospital where the blood was drawn. They wouldn't give results to the patient directly. We called the Pediatrician. He wouldn't give the results because he had never heard of the disease... Our phone calls went on for hours.
Finally, we got a call back from the genetic counselor at our local hospital (U of Chicago). She told us that the geneticist was stuck in CA and that they couldn't give any results until he came back. She did confirm that she had the name of the disease. I knew in my heart that it must be a horrible disease if no one was willing to tell us the name. After a long time on the phone and me crying hysterically, she did give me the name of the disease but said that she really didn't know anything about it.
Of course the first thing that I did when we hung up was to search the internet. There was very little information out there and what was there said that children with this disease don't live past 5yo. Well, my DD was already 7yo! I searched and searched and everything was pretty much a one page blurb saying the same things.
Several days later when planes were flying again, we had an appointment with the geneticist. He basically told us what we already knew. We were told that there is no cure. That our DD is no longer a candidate for the only treatment which is a bone marrow transplant because the disease had progressed too far. That there were only 200 diagnosed cases in the WORLD. Pretty much that there was no hope.
We did find a parent support group. This group has been instrumental in helping to fund research.
I am happy to say that although the disease has progressed and DD is not the same child that she was 8 years ago, she is still with us and is a happy girl! I can't imagine what our lives would be like without her! Although the struggles and frustration is dealt with on a daily basis, we have met some WONDERFUL people that would have never touched our lives if not for our DD. We are EXTREMELY proud of our two older DDs that have both decided to become Special Education teachers because of their little sister. They are the best big sisters ever. Our oldest will be getting her teaching license in Dec and I remember when she was in 4th grade and did a oral report on disabilities like it was yesterday. She even arranged with the teachers for her little sister to come to her class for the report.
This day will always be remembered not only for what happened to us personally but what also happened to our nation.
Finally, we got a call back from the genetic counselor at our local hospital (U of Chicago). She told us that the geneticist was stuck in CA and that they couldn't give any results until he came back. She did confirm that she had the name of the disease. I knew in my heart that it must be a horrible disease if no one was willing to tell us the name. After a long time on the phone and me crying hysterically, she did give me the name of the disease but said that she really didn't know anything about it.
Of course the first thing that I did when we hung up was to search the internet. There was very little information out there and what was there said that children with this disease don't live past 5yo. Well, my DD was already 7yo! I searched and searched and everything was pretty much a one page blurb saying the same things.
Several days later when planes were flying again, we had an appointment with the geneticist. He basically told us what we already knew. We were told that there is no cure. That our DD is no longer a candidate for the only treatment which is a bone marrow transplant because the disease had progressed too far. That there were only 200 diagnosed cases in the WORLD. Pretty much that there was no hope.
We did find a parent support group. This group has been instrumental in helping to fund research.
I am happy to say that although the disease has progressed and DD is not the same child that she was 8 years ago, she is still with us and is a happy girl! I can't imagine what our lives would be like without her! Although the struggles and frustration is dealt with on a daily basis, we have met some WONDERFUL people that would have never touched our lives if not for our DD. We are EXTREMELY proud of our two older DDs that have both decided to become Special Education teachers because of their little sister. They are the best big sisters ever. Our oldest will be getting her teaching license in Dec and I remember when she was in 4th grade and did a oral report on disabilities like it was yesterday. She even arranged with the teachers for her little sister to come to her class for the report.
This day will always be remembered not only for what happened to us personally but what also happened to our nation.
